[Pediatric cutaneous mastocytosis]. / Cas clinique : La mastocytose cutanée pédiatrique.

Mastocytosis are orphan diseases characterized by the accumulation of mast cells in one or more organs. A distinction is made between systemic forms (10 %) and pure cutaneous forms (90 %), the latter being mainly pediatric and generally having a spontaneously favourable prognosis. In the absence of a systemic sign, the diagnostic criteria for cutaneous mastocytosis are Darier's sign, in principle, pathognomonic, as well as skin histology confirming mast cell infiltration. The treatment is essentially preventive (avoidance of factors triggering degranulation) and symptomatic (antihistamine agents).

Les mastocytoses sont des maladies orphelines caractérisées par l'accumulation de mastocytes dans un ou plusieurs organes. On distingue les formes systémiques (10 %) des formes cutanées pures (90 %). Ces dernières sont principalement pédiatriques et ont, généralement, un pronostic spontanément favorable. En cas d'absence de signe d'appel systémique, les critères de diagnostic de mastocytose cutanée sont le signe de Darier, en principe, pathognomonique ainsi que l'histologie cutanée affirmant l'infiltration mastocytaire. Le traitement est essentiellement préventif (éviction des facteurs déclenchant la dégranulation) et symptomatique (médicaments antihistaminiques).

Diagnostic accuracy of heart-rate recovery after exercise in the assessment of diabetic cardiac autonomic neuropathy.

AIMS: Poor prognosis associated with blunted post-exercise heart-rate recovery may reflect autonomic dysfunction. This study sought the accuracy of post-exercise heart-rate recovery in the diagnosis of cardiac autonomic neuropathy, which represents a serious, but often unrecognized complication of Type 2 diabetes. METHODS: Clinical assessment of cardiac autonomic neuropathy and maximal treadmill exercise testing for heart-rate recovery were performed in 135 patients with Type 2 diabetes and negative exercise echocardiograms. Cardiac autonomic neuropathy was defined by abnormalities in ≥ 2 of 7 autonomic function markers, including four cardiac reflex tests and three indices of short-term (5-min) heart-rate variability. Heart-rate recovery was defined at 1-, 2- and 3-min post-exercise. RESULTS: Patients with cardiac autonomic neuropathy (n = 27; 20%) had lower heart-rate recovery at 1-, 2- and 3-min post-exercise (P < 0.01). Heart-rate recovery demonstrated univariate associations with autonomic function markers (r-values 0.20-0.46, P < 0.05). Area under the receiver-operating characteristic curve revealed good diagnostic performance of all heart-rate recovery parameters (range 0.80-0.83, P < 0.001). Optimal cut-offs for heart-rate recovery at 1-, 2- and 3-min post-exercise were ≤ 28 beats/min (sensitivity 93%, specificity 69%), ≤ 50 beats/min (sensitivity 96%, specificity 63%) and ≤ 52 beats/min (sensitivity 70%, specificity 84%), respectively. These criteria predicted cardiac autonomic neuropathy independently of relevant clinical and exercise test information (adjusted odds ratios 7-28, P < 0.05). CONCLUSIONS: Post-exercise heart-rate recovery provides an accurate diagnostic test for cardiac autonomic neuropathy in Type 2 diabetes. The high sensitivity and modest specificity suggests heart-rate recovery may be useful to screen for patients requiring clinical autonomic evaluation.

Reliability of heart rate variability in patients with type 2 diabetes mellitus.

AIMS: Heart rate variability may be used to assess diabetic cardiac autonomic neuropathy. The aim of the present study was to determine the reliability of standard short-term clinical measurements of heart rate variability in patients with Type 2 diabetes. METHODS: In 24 patients with Type 2 diabetes (11 male, age 61 ± 9 years), parameters of heart rate variability in the time domain (standard deviation of RR intervals, coefficient of variation of RR intervals and root mean square of successive RR interval differences) and frequency domain (very low frequency, low frequency, high frequency and total spectral power) were derived from a 5-min electrocardiograph recorded during two laboratory visits separated by 16 ± 8 days. Absolute and relative reliability were assessed by 95% limits of random variation and the intraclass correlation coefficient, respectively. Categorical agreement of classifications of heart rate variability and sample size estimates for clinical trials were calculated. RESULTS: Despite no significant difference in mean heart rate variability between tests, 95% limits of random variation indicated that repeated measurements were between 58% higher/37% lower (most reliable parameter; coefficient of variation of RR intervals) and 443% higher/82% lower (least reliable parameter; very low frequency power) than the first measure. The intraclass correlation coefficient ranged from 0.58 to 0.90 and sample size requirements from 20 to 93 patients per group. Agreement of categories of heart rate variability ranged from 79 to 96%. CONCLUSIONS: Short-term clinical measurements of heart rate variability in patients with Type 2 diabetes are characterized by poor absolute reliability, but substantial to good relative reliability, suggesting greater clinical utility in diagnosis than in sequential follow-up.

The effect of a high-fat meal on postprandial arterial stiffness in men with obesity and type 2 diabetes.

CONTEXT: Postprandial dysmetabolism is emerging as an important cardiovascular risk factor. Augmentation index (AIx) is a measure of systemic arterial stiffness and independently predicts cardiovascular outcome. OBJECTIVE: The objective of this study was to assess the effect of a standardized high-fat meal on metabolic parameters and AIx in 1) lean, 2) obese nondiabetic, and 3) subjects with type 2 diabetes mellitus (T2DM). DESIGN AND SETTING: Male subjects (lean, n = 8; obese, n = 10; and T2DM, n = 10) were studied for 6 h after a high-fat meal and water control. Glucose, insulin, triglycerides, and AIx (radial applanation tonometry) were measured serially to determine the incremental area under the curve (iAUC). RESULTS: AIx decreased in all three groups after a high-fat meal. A greater overall postprandial reduction in AIx was seen in lean and T2DM compared with obese subjects (iAUC, 2251 +/- 1204, 2764 +/- 1102, and 1187 +/- 429% . min, respectively; P < 0.05). The time to return to baseline AIx was significantly delayed in subjects with T2DM (297 +/- 68 min) compared with lean subjects (161 +/- 88 min; P < 0.05). There was a significant correlation between iAUC AIx and iAUC triglycerides (r = 0.50; P < 0.05). CONCLUSIONS: Obesity is associated with an attenuated overall postprandial decrease in AIx. Subjects with T2DM have a preserved, but significantly prolonged, reduction in AIx after a high-fat meal. The correlation between AIx and triglycerides suggests that postprandial dysmetabolism may impact on vascular dynamics. The markedly different response observed in the obese subjects compared with those with T2DM was unexpected and warrants additional evaluation.

[The clinical case of the month. Malignant whooping cough in an infant]. / Le cas clinique du mois. Coqueluche maligne du nourrisson: à propos d'un cas.

Morbidity and mortality of whooping cough remain significant among infants despite vaccination. This article presents a case of whooping cough with complications in a 3 month old infant who had already received his first dose of anti-pertussis vaccine at 2 months and 3 weeks of age.

Gas exchange and heart rate kinetics during binary sequence exercise in cystic fibrosis.

MATERIAL AND METHODS: Gas exchange and heart rate (HR) kinetics were investigated in 20 patients with cystic fibrosis (CF) by using a pseudorandom binary sequence (PRBS)-technique. Electrocardiogram was continuously recorded, and VO2, VCO2 and ventilation/min (VE) responses to a multifrequent input signal were measured by means of breath-by-breath analysis. Lag time and peak value in the time-domain, and amplitude ratios in the frequency-domain were calculated to characterize the crosscorrelation functions between input and responses, and compared to normal ranges. RESULTS: Time and frequency domain parameters are abnormal for VO2, VCO2 and VE responses in moderately and severely ill patients, and for the HR response only in severely ill patients. Correlations are shown between those parameters, the severity of the illness evaluated by the Shwachman score and the level of impairment of the pulmonary function. CONCLUSION: The PRBS-technique is a useful tool to investigate the gas exchange and HR kinetics in CF patients, that offers many advantages: (1) no explicit mathematical models are assumed, (2) it is a walking test that may be used even in very young or severely ill patients, and (3) it challenges the ability to adapt to non-steady state exercise and is therefore representative for daily activities.

Sjögren-Larsson-like syndrome with bone dysplasia and normal fatty alcohol NAD+ oxidoreductase activity.

We report a boy and girl with a "new" multiple congenital anomalies/mental retardation syndrome which resemblances Sjögren-Larsson syndrome. Both patients had a concordant pattern of anomalies consisting of congenital lamellar ichthyosis with spontaneous improvement, moderate mental retardation, mild pyramidal involvement, telecanthus, flat facies, stubby long bones, and coxa valga. Severe myopia, ventriculoseptal defect, and postaxial polydactyly were present in the girl who had more severe bone involvement with dense, enlarged metaphyses, vertebral dysplasia, and advanced skeletal maturation of the lower limbs. Long-chain fatty alcohol NAD+ oxidoreductase (FAO) and steroid sulfatase were normal.

A patient with two chronic posttraumatic aneurysms of the thoracic aorta.

A case of successful replacement of two coexistent chronic post-traumatic aneurysms of the thoracic aorta is presented. Presumably, these aneurysms at the aortic isthmus and the descending thoracic aorta resulted from two different deceleration traumas.

LAV/HTLV-III infection in children of African origin: experience in Belgium.

From December 1982 to June 1985, we diagnosed LAV/HTLV-III infection in 16 children of African origin living in Belgium or referred to one of the hospitals participating in this study. Diagnosis was proven in seven of them by isolation of virus of the LAV/HTLV-III group. In the nine others, LAV/HTLV-III infection was highly probable because of the presence of antibodies against the virus (seven subjects) or clinical and immunological evidence of immune deficiency associated with a parental history of LAV/HTLV-III infection (two subjects). Five of these children had a severe illness starting in the first months of life (range 20 days--4 months) and died within 4 months (range 19 days--10 months). Eight children presented later in life (mean age 35 months, range 2-66 months) with a milder and more chronic disease characterized by the presence of generalized lymphadenopathy (6/8), hepatomegaly (5/8), splenomegaly (5/8), interstitial pulmonary infiltration (4/8), parotid swelling (3/8), CSF lymphocytosis (3/5), diarrhoea without pathogen isolated (1/8) and fever (1/8). At least one of the parents of each child was of African origin. At the time of birth of their child two mothers and one father had an AIDS-related complex. After a mean period of 34 months (range 3-87 months) five fathers and six mothers had a symptomatic LAV/HTLV-III infection (AIDS or AIDS-related complex).